I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and clinical focus on the causes of intellectual and physical disability.
I completed RACP training in paediatrics and clinical genetics in 2000 before undertaking PhD studies in chromosome biology completed in 2004. Since 2005 I have worked as a consultant clinical geneticist at Victorian Clinical Genetics Services (VCGS) and as a Research Group leader at Murdoch Children’s Research Institute (MCRI). From 2009 to 2016 I was Director of Victorian Clinical Genetics Services.
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and...
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and clinical focus on the causes of intellectual and physical disability.
I completed RACP training in paediatrics and clinical genetics in 2000 before undertaking PhD studies in chromosome biology completed in 2004. Since 2005 I have worked as a consultant clinical geneticist at Victorian Clinical Genetics Services (VCGS) and as a Research Group leader at Murdoch Children’s Research Institute (MCRI). From 2009 to 2016 I was Director of Victorian Clinical Genetics Services.
Top Publications
Hamilton, EMC, van der Lei, HDW, Vermeulen, G, Gerver, JAM, Lourenço, CM, Naidu, S, Mierzewska, H, Gemke, RJBJ, de Vet, HCW, Uitdehaag, BMJ, et al.
Natural History of Vanishing White Matter.
Annals of Neurology
84(2)
:
274 -288
2018
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Ulirsch, JC, Verboon, JM, Kazerounian, S, Guo, MH, Yuan, D, Ludwig, LS, Handsaker, RE, Abdulhay, NJ, Fiorini, C, Genovese, G, et al.
The Genetic Landscape of Diamond-Blackfan Anemia.
2018
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Sung, V, Downie, L, Halliday, J, Burt, R, Lunke, S, Lynch, E, Martyn, M, Poulakis, Z, Gaff, C, Wake, M, et al.
Whole exome sequencing in infants with congenital hearing loss..
2018
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Mei, C, Fedorenko, E, Amor, DJ, Boys, A, Hoeflin, C, Carew, P, Burgess, T, Fisher, SE, Morgan, AT.
Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.
European Journal of Human Genetics
26(5)
:
676 -686
2018
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Archibald, AD, Smith, MJ, Burgess, T, Scarff, KL, Elliott, J, Hunt, CE, Barns-Jenkins, C, Holt, C, Sandoval, K, Siva Kumar, V, et al.
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.
Genetics in Medicine
20(5)
:
513 -523
2018
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